Incidental Mutation 'R6370:Ncoa3'
ID 513457
Institutional Source Beutler Lab
Gene Symbol Ncoa3
Ensembl Gene ENSMUSG00000027678
Gene Name nuclear receptor coactivator 3
Synonyms 2010305B15Rik, AIB1, KAT13B, RAC3, TRAM1, TRAM-1, bHLHe42, pCIP, Src3
MMRRC Submission 044520-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6370 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165907825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1145 (S1145P)
Ref Sequence ENSEMBL: ENSMUSP00000104875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109252]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088095
AA Change: S1145P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: S1145P

DomainStartEndE-ValueType
HLH 32 89 5.63e-9 SMART
PAS 113 179 1.16e-11 SMART
Pfam:PAS_11 261 372 1.6e-34 PFAM
Pfam:NCOA_u2 451 564 7.1e-46 PFAM
low complexity region 586 599 N/A INTRINSIC
Pfam:SRC-1 608 696 1.6e-32 PFAM
Pfam:DUF4927 714 801 2e-32 PFAM
coiled coil region 960 997 N/A INTRINSIC
Pfam:Nuc_rec_co-act 1056 1104 2.1e-27 PFAM
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1221 1233 N/A INTRINSIC
low complexity region 1243 1263 N/A INTRINSIC
DUF1518 1270 1327 1.08e-21 SMART
low complexity region 1384 1398 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109252
AA Change: S1145P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: S1145P

DomainStartEndE-ValueType
HLH 32 89 5.63e-9 SMART
PAS 113 179 1.16e-11 SMART
Pfam:PAS_11 261 372 4.1e-34 PFAM
low complexity region 438 467 N/A INTRINSIC
low complexity region 502 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Pfam:SRC-1 608 696 3.5e-28 PFAM
coiled coil region 960 997 N/A INTRINSIC
Pfam:Nuc_rec_co-act 1056 1106 6.6e-29 PFAM
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1218 1232 N/A INTRINSIC
low complexity region 1242 1262 N/A INTRINSIC
DUF1518 1269 1326 1.08e-21 SMART
low complexity region 1383 1397 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139658
Meta Mutation Damage Score 0.0615 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
PHENOTYPE: Nullizygous mice exhibit growth defects and reduced serum IGF-1 levels and may show impaired proliferative responses to various factors, delayed mammary gland growth and puberty, reproductive dysfunction, susceptibility to endotoxin shock, altered lymphopoiesis, and protection against obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,717,024 (GRCm39) V67A probably damaging Het
Atic T A 1: 71,617,819 (GRCm39) F590I probably damaging Het
Atxn10 T C 15: 85,277,586 (GRCm39) F351S probably damaging Het
Bcl2l13 A G 6: 120,842,583 (GRCm39) N92S probably benign Het
Carm1 G T 9: 21,498,815 (GRCm39) A518S probably benign Het
Ccar1 C T 10: 62,600,308 (GRCm39) R541H probably damaging Het
Cfhr2 A T 1: 139,750,065 (GRCm39) L96Q probably damaging Het
Chrnb4 A G 9: 54,942,143 (GRCm39) L377S probably benign Het
Clcn3 A G 8: 61,376,058 (GRCm39) Y639H probably damaging Het
Cngb1 C T 8: 95,991,050 (GRCm39) M717I probably benign Het
Ctcf T C 8: 106,390,852 (GRCm39) M153T probably benign Het
Cyp2b19 T C 7: 26,462,783 (GRCm39) S222P probably benign Het
Dixdc1 A T 9: 50,593,523 (GRCm39) probably null Het
Entpd2 G A 2: 25,287,429 (GRCm39) G47S probably damaging Het
Erbb3 A G 10: 128,405,943 (GRCm39) M1158T possibly damaging Het
Faah T C 4: 115,860,253 (GRCm39) D333G probably damaging Het
Foxred2 T A 15: 77,827,506 (GRCm39) T618S probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpx5 A T 13: 21,472,872 (GRCm39) probably null Het
Gtdc1 A G 2: 44,646,334 (GRCm39) V98A probably damaging Het
Hal T C 10: 93,333,368 (GRCm39) I312T probably damaging Het
Krtap21-1 T C 16: 89,200,519 (GRCm39) Y41C unknown Het
Larp6 A G 9: 60,644,646 (GRCm39) E262G probably damaging Het
Lrrn1 A G 6: 107,546,185 (GRCm39) Y661C probably damaging Het
Lsm14a A G 7: 34,056,906 (GRCm39) V244A probably benign Het
Mfrp T C 9: 44,017,558 (GRCm39) C517R probably damaging Het
Mtarc1 T C 1: 184,527,689 (GRCm39) D257G probably damaging Het
Nosip G T 7: 44,726,164 (GRCm39) probably null Het
Or4c100 T A 2: 88,329,712 (GRCm39) C94* probably null Het
Or51f2 A T 7: 102,526,377 (GRCm39) T17S probably benign Het
Or52n1 T C 7: 104,383,124 (GRCm39) K149R probably benign Het
Phykpl T C 11: 51,477,543 (GRCm39) S112P probably damaging Het
Pik3cb A T 9: 98,922,987 (GRCm39) I1015K probably damaging Het
Pomt2 A G 12: 87,155,973 (GRCm39) W818R probably damaging Het
Ptpn21 A T 12: 98,655,293 (GRCm39) M558K possibly damaging Het
Rnf213 T A 11: 119,367,904 (GRCm39) N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Rxrg T C 1: 167,462,006 (GRCm39) V227A probably damaging Het
Satb1 A T 17: 52,089,825 (GRCm39) S341T possibly damaging Het
Skint5 T G 4: 113,471,307 (GRCm39) Q983P unknown Het
Slc6a18 G A 13: 73,816,278 (GRCm39) T367I probably benign Het
Slc7a1 A G 5: 148,277,483 (GRCm39) L344P probably damaging Het
Slc7a6 T A 8: 106,922,069 (GRCm39) F399I probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sugt1 T C 14: 79,847,774 (GRCm39) V208A probably benign Het
Syt3 A G 7: 44,045,107 (GRCm39) K480E probably damaging Het
Thop1 C T 10: 80,913,817 (GRCm39) T186I probably benign Het
Trim55 G A 3: 19,745,650 (GRCm39) E509K possibly damaging Het
Upf2 A G 2: 5,980,821 (GRCm39) N469S unknown Het
Usp24 G T 4: 106,237,718 (GRCm39) K1125N probably null Het
Usp5 A T 6: 124,797,391 (GRCm39) D494E probably benign Het
Vmn2r51 T C 7: 9,832,143 (GRCm39) K481R probably damaging Het
Vps16 C A 2: 130,285,304 (GRCm39) A787D probably damaging Het
Washc4 C T 10: 83,407,226 (GRCm39) H488Y possibly damaging Het
Wdfy4 C A 14: 32,790,807 (GRCm39) A2053S probably benign Het
Zfp74 A T 7: 29,631,835 (GRCm39) D136E probably damaging Het
Other mutations in Ncoa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ncoa3 APN 2 165,893,529 (GRCm39) splice site probably null
IGL01068:Ncoa3 APN 2 165,894,715 (GRCm39) missense probably damaging 1.00
IGL01300:Ncoa3 APN 2 165,910,381 (GRCm39) missense probably benign 0.41
IGL01336:Ncoa3 APN 2 165,896,443 (GRCm39) missense probably benign
IGL01533:Ncoa3 APN 2 165,896,945 (GRCm39) missense probably benign 0.03
IGL01658:Ncoa3 APN 2 165,893,222 (GRCm39) splice site probably benign
IGL02053:Ncoa3 APN 2 165,896,754 (GRCm39) missense probably damaging 1.00
IGL02138:Ncoa3 APN 2 165,897,182 (GRCm39) missense probably benign
IGL02167:Ncoa3 APN 2 165,912,056 (GRCm39) missense probably damaging 1.00
IGL02217:Ncoa3 APN 2 165,897,266 (GRCm39) missense probably damaging 1.00
IGL02312:Ncoa3 APN 2 165,899,120 (GRCm39) missense probably benign 0.10
IGL02381:Ncoa3 APN 2 165,894,737 (GRCm39) missense probably damaging 1.00
IGL02568:Ncoa3 APN 2 165,911,277 (GRCm39) missense probably damaging 1.00
IGL02658:Ncoa3 APN 2 165,893,313 (GRCm39) missense probably benign 0.01
IGL02806:Ncoa3 APN 2 165,894,352 (GRCm39) missense probably benign 0.25
R0054:Ncoa3 UTSW 2 165,897,098 (GRCm39) missense possibly damaging 0.67
R0054:Ncoa3 UTSW 2 165,897,098 (GRCm39) missense possibly damaging 0.67
R0240:Ncoa3 UTSW 2 165,896,320 (GRCm39) missense probably benign
R0240:Ncoa3 UTSW 2 165,896,320 (GRCm39) missense probably benign
R0333:Ncoa3 UTSW 2 165,896,211 (GRCm39) missense probably damaging 1.00
R0379:Ncoa3 UTSW 2 165,896,422 (GRCm39) missense probably damaging 0.97
R0411:Ncoa3 UTSW 2 165,910,463 (GRCm39) missense probably benign 0.31
R0734:Ncoa3 UTSW 2 165,911,111 (GRCm39) unclassified probably benign
R1434:Ncoa3 UTSW 2 165,897,430 (GRCm39) missense probably benign 0.01
R1491:Ncoa3 UTSW 2 165,897,182 (GRCm39) missense probably benign
R1721:Ncoa3 UTSW 2 165,911,221 (GRCm39) missense possibly damaging 0.55
R1895:Ncoa3 UTSW 2 165,901,097 (GRCm39) missense possibly damaging 0.68
R1896:Ncoa3 UTSW 2 165,890,384 (GRCm39) missense probably benign 0.36
R1946:Ncoa3 UTSW 2 165,901,097 (GRCm39) missense possibly damaging 0.68
R2406:Ncoa3 UTSW 2 165,897,279 (GRCm39) missense probably damaging 1.00
R3800:Ncoa3 UTSW 2 165,901,639 (GRCm39) missense possibly damaging 0.58
R3825:Ncoa3 UTSW 2 165,896,718 (GRCm39) missense possibly damaging 0.83
R4377:Ncoa3 UTSW 2 165,896,417 (GRCm39) missense possibly damaging 0.50
R4674:Ncoa3 UTSW 2 165,901,731 (GRCm39) missense probably benign
R4706:Ncoa3 UTSW 2 165,889,799 (GRCm39) missense probably damaging 1.00
R4751:Ncoa3 UTSW 2 165,911,823 (GRCm39) missense possibly damaging 0.81
R4954:Ncoa3 UTSW 2 165,907,706 (GRCm39) missense probably benign
R4976:Ncoa3 UTSW 2 165,889,820 (GRCm39) missense probably damaging 1.00
R4992:Ncoa3 UTSW 2 165,911,859 (GRCm39) missense probably benign 0.39
R5100:Ncoa3 UTSW 2 165,892,017 (GRCm39) missense probably damaging 1.00
R5578:Ncoa3 UTSW 2 165,896,248 (GRCm39) missense probably benign 0.00
R5932:Ncoa3 UTSW 2 165,912,045 (GRCm39) splice site probably null
R6051:Ncoa3 UTSW 2 165,900,685 (GRCm39) missense probably damaging 1.00
R6372:Ncoa3 UTSW 2 165,901,267 (GRCm39) missense possibly damaging 0.94
R6373:Ncoa3 UTSW 2 165,901,267 (GRCm39) missense possibly damaging 0.94
R7438:Ncoa3 UTSW 2 165,910,449 (GRCm39) missense probably damaging 1.00
R7660:Ncoa3 UTSW 2 165,911,241 (GRCm39) missense probably benign 0.00
R7738:Ncoa3 UTSW 2 165,891,987 (GRCm39) missense probably damaging 1.00
R7752:Ncoa3 UTSW 2 165,907,688 (GRCm39) nonsense probably null
R7970:Ncoa3 UTSW 2 165,893,277 (GRCm39) missense probably benign 0.01
R8829:Ncoa3 UTSW 2 165,892,068 (GRCm39) missense probably damaging 1.00
R9133:Ncoa3 UTSW 2 165,910,381 (GRCm39) missense possibly damaging 0.92
R9625:Ncoa3 UTSW 2 165,899,130 (GRCm39) missense probably benign
X0018:Ncoa3 UTSW 2 165,896,722 (GRCm39) missense possibly damaging 0.58
Z1177:Ncoa3 UTSW 2 165,890,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAGGTGTAGCTAACCATTCC -3'
(R):5'- TTTAGTTAGCAAAGAGTGGAGAGCC -3'

Sequencing Primer
(F):5'- CAGGTGTAGCTAACCATTCCTTTGTG -3'
(R):5'- GAGAGCACAGCCTAAGAGCC -3'
Posted On 2018-04-27